Purpose of review: To provide an expert review and expert perspective on important advances related to the genetics of acute and chronic pancreatitis.
Recent findings: Provocative new studies highlight the interplay between genetic, developmental, and environmental factors. Key findings include the relationship between pancreas divisum and CFTR mutations, the role of trypsin in acute and recurrent acute pancreatitis, and the discovery of a pancreatitis modifier gene on the X chromosome that provides new clues to why the vast majority of patients with alcoholic pancreatitis are men.
Summary: Pancreatic genetics is complex, linked to the multiplicative and modifying effects of multiple interacting genetic, structural, and environmental factors. Clinical interpretation will require disease modeling and simulation to understand the combined effect of risk factors that alone are neither sufficient nor necessary to cause disease, and to design treatment strategies that prevent the development of advanced chronic pancreatitis - which by definition is irreversible.